Variant report

Variant	rs1275822
Chromosome Location	chr14:70187202-70187203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70185030..70187373-chr14:70233789..70235344,2	MCF-7	breast:
2	chr14:70187141..70189725-chr14:70237389..70239398,2	K562	blood:
3	chr14:70184941..70187799-chr14:70233850..70236833,2	K562	blood:
4	chr14:70186235..70188354-chr14:70189451..70192309,2	MCF-7	breast:
5	chr14:70183599..70186731-chr14:70186733..70189536,3	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10151991	0.81[AFR][1000 genomes]
rs11158811	0.81[AFR][1000 genomes]
rs11624394	0.81[AFR][1000 genomes]
rs1275741	0.88[AFR][1000 genomes]
rs1275743	0.88[AFR][1000 genomes]
rs1275818	0.94[AFR][1000 genomes]
rs1275819	0.94[AFR][1000 genomes]
rs1275820	0.94[AFR][1000 genomes]
rs1275821	0.94[AFR][1000 genomes]
rs1957366	0.82[AFR][1000 genomes]
rs2181051	0.88[AFR][1000 genomes]
rs2208653	0.81[AFR][1000 genomes]
rs4902729	0.81[AFR][1000 genomes]
rs4902731	0.81[AFR][1000 genomes]
rs6573891	0.81[AFR][1000 genomes]
rs762050	0.81[AFR][1000 genomes]
rs8018613	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
2	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:70181600-70188000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
5	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:70182600-70187600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:70182600-70188000	Enhancers	Lung	lung
8	chr14:70183000-70193400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:70183200-70187800	Weak transcription	Fetal Intestine Large	intestine
10	chr14:70183600-70187600	Enhancers	HMEC	breast
11	chr14:70183800-70187800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:70183800-70193400	Weak transcription	Colonic Mucosa	Colon
13	chr14:70183800-70193400	Weak transcription	Small Intestine	intestine
14	chr14:70184000-70192800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:70184000-70193000	Weak transcription	Brain Substantia Nigra	brain
16	chr14:70184800-70187800	Enhancers	Brain Hippocampus Middle	brain
17	chr14:70185200-70188400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:70186400-70191800	Weak transcription	Brain Anterior Caudate	brain
19	chr14:70186600-70193400	Weak transcription	Ovary	ovary
20	chr14:70186800-70187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:70186800-70187800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70186800-70187800	Weak transcription	Right Atrium	heart
23	chr14:70186800-70188000	Enhancers	Right Ventricle	heart
24	chr14:70186800-70192400	Weak transcription	Spleen	Spleen
25	chr14:70186800-70192800	Weak transcription	Left Ventricle	heart
26	chr14:70186800-70193000	Weak transcription	GM12878-XiMat	blood
27	chr14:70186800-70193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:70186800-70193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:70186800-70193400	Weak transcription	Psoas Muscle	Psoas
30	chr14:70186800-70193400	Weak transcription	HSMM	muscle
31	chr14:70187000-70187400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:70187000-70187600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:70187000-70187800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:70187000-70189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:70187000-70191600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:70187000-70191600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:70187000-70192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:70187000-70193400	Weak transcription	HSMMtube	muscle
39	chr14:70187200-70187400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:70187200-70187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:70187200-70192400	Weak transcription	Adipose Nuclei	Adipose
42	chr14:70187200-70192400	Weak transcription	HepG2	liver
43	chr14:70187200-70193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:70187200-70193400	Weak transcription	HUVEC	blood vessel

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